[Cephalometric study of the velocardiofacial syndrome: Impact of dysmorphosis on phonation]

Velopharyngeal insufficiency is a frequent sign of the velocardiofacial syndrome (VCFS) but its origins are not well-documented. Our aim was to establish a correlation between this functional disorder and regional morphological anomalies.

Twenty-seven of 36 patients presenting with VCFS could be included retrospectively. We measured cavum depth and velum length on lateral orthodontic X-rays, and assessed the relationship between these two measures. We compared these measures to those of reference populations. Postoperative phonation was assessed with an aerophonoscope.

The patients presented with a short velum and a deep cavum. Cranium base and upper cervical spine were malformed in 22 of the 27 patients. Seventeen of the 23 assessed patients (66%) improved their phonation after surgery.

Our data suggests that velopharyngeal insufficiency in VCFS could be the result of a more global craniospinal growth disorder the functional consequences of which remain unclear. The frequent association of morphological anomalies with mental retardation is probably responsible for the failure to normalize phonation.